rs1158867

This is a regulatory region variant variant in the PROC gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

protein C measurement

Tang W et al. “Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.” Blood 116(23):5032-6 (2010)

Allele C

OR 0.12

p 4.0e-36

N 8,048

CohortLarge GWAS

European

venous thromboembolism

Thibord F et al. “Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors.” Circulation 146(16):1225-1242 (2022)

Allele T

OR 0.07

p 7.0e-29

N 1,066,917

Large GWAS

European

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

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Research that mentions this SNP (1)

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Genetic Markers Associated With Plasma Protein C Level in African Americans: The Atherosclerosis Risk in Communities (ARIC) Study

AssociationN=2,701Munir MS et al.(2014)· Genetic Epidemiology

Genome-wide association study of plasma protein C levels in 2,701 African Americans from the ARIC study identified 79 genome-wide significant SNPs in two regions (2q14 and 20q11). The top signal was rs867186 (missense, S219G in PROCR; p=9.84×10⁻⁶⁵, β=0.49 µg/ml, 10% variance explained). Additional significant hits were rs7580658 and rs1799808 near the PROC gene, and novel associations with CYP27C1 and MYO7B were discovered.

Traits studied:Anticoagulant levelsPlasma protein C level

PubMed DOI Metascience Observatory

About PROC

This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.[provided by RefSeq, Dec 2009]